Current perspectives in Bietti crystalline dystrophy.

Bietti crystalline dystrophy (BCD) is a rare-inherited disease caused by mutations in the CYP4V2 gene and characterized by the presence of multiple shimmering yellow-white deposits in the posterior pole of the retina in association with atrophy of the retinal pigment epithelium (RPE) and chorioretinal atrophy. The additional presence of glittering dots located at the corneal limbus is also a frequent finding. The CYP4V2 protein belongs to the cytochrome P450 subfamily 4 and is mainly expressed in the retina and the RPE and less expressed in the cornea. The disease has its metabolic origin in the diminished transformation of fatty acid substrates into n-3 polyunsaturated fatty acids due to a dysregulation of the lipid metabolism. In this review, we provide updated insights on clinical and molecular characteristics of BCD including underlying mechanisms of BCD, genetic diagnosis, progress in the identification of causative genetic and epigenetic factors, available techniques of exploration and development of novel therapies. This information will help clinicians to improve accuracy of BCD diagnosis, providing the patient reliable information regarding prognosis and clinical prediction of the disease course.

Impact of Swept Source optical coherence tomography in patients with photoreceptor dystrophies. / Utilidad de la tomografía de coherencia óptica Swept Source en pacientes con distrofias de fotorreceptores.

The use of optical coherence tomography to diagnose conditions that predominantly affect the photoreceptor layer is postulated as a technique that allows to evaluate the relationship between retinal changes and loss of visual acuity. Two clinical cases are presented on patients with a bilateral decrease of their visual acuity and alteration in chromatic perception. Optical coherence tomography revealed subfoveal focal hypo-reflective defects on the hyper-reflective band (known as the ellipsoid zone).

Melanoma nevoide de iris, a propósito de un caso / Nevoid iris melanoma, case report

Caso clínico: Se presenta el caso de un paciente con nevus de iris en el ojo izquierdo, diagnosticado en la juventud y con mal seguimiento, que refiere disminución de la agudeza visual en dicho ojo. A la exploración se objetivó hifema y un nódulo de 3 × 4 × 3mm, con pigmentación irregular. Se realizó exéresis de tumoración y análisis anatomopatológico que confirmó la sospecha de melanoma de iris en estadio Ia. Discusión: A pesar del bajo grado de malignidad del melanoma de iris, y de la escasa frecuencia de transformación de nevus de iris en melanoma, es preciso realizar seguimientos para su diagnóstico y tratamiento precoz (AU)

Case report: The case is presented of a patient with diagnosis of iris nevus in the left eye in youth with a poor follow-up, who referred a decreased visual acuity in that eye. A hyphaema and a 3×4×3mm nodule with irregular pigmentation was observed. Excision of the tumour and histological analysis confirmed the suspicion of iris melanoma in stage Ia. Discussion: Despite the low grade malignancy of iris melanoma and the low frequency of transformation of iris nevus into melanoma, a follow-up is required for its early diagnosis and treatment (AU)

Infiltración leucémica y retinitis por citomegalovirus en paciente con leucemia linfoblástica aguda tipo T en remisión completa / Leukaemic infiltration and cytomegalovirus retinitis in a patient with acute T-cell lymphoblastic leukaemia in complete remission

CASO CLÍNCO:Mujer de 43 años con leucemia linfoblástica T en remisión completa, remitida por sospecha de necrosis retiniana herpética/retinitis leucémica en el ojo izquierdo (OI). La agudeza visual era de unidad y el fondo de ojo presentaba retinitis y hemorragias en periferia. Ante estudio hematológico negativo, recibió tratamiento por retinitis por citomegalovirus. Tras mejoría inicial, aparece papilitis en el OI y restricción de la motilidad en el ojo derecho. La resonancia y punción lumbar confirman la recidiva leucémica. DISCUSIÓN: La afectación ocular puede preceder a la recaída hematológica, por eso debe sospecharse ante sintomatología ocular. Además, son frecuentes las infecciones oportunistas en inmunodeprimidos

CLINICAL CASE: A 43-year-old woman in remission from T- cell acute lymphoblastic leukaemia was referred to our hospital with suspected leukaemic retinitis. The funduscopic examination of her left eye revealed multifocal yellow-white peripheral retinitis and retinal haemorrhage. The patient was treated for cytomegalovirus retinitis after an extended haematological investigation showed no abnormalities. Initial improvement was followed by papillitis in the left eye and motility restriction in the right eye. Magnetic resonance and lumbar puncture confirmed leukaemia relapse. Specific treatment was initiated with complete resolution. DISCUSSION: Ocular involvement may precede haematological leukaemia relapse. Physicians should be alerted when ocular symptoms appear in these cases

Leukaemic infiltration and cytomegalovirus retinitis in a patient with acute T-cell lymphoblastic leukaemia in complete remission. / Infiltración leucémica y retinitis por citomegalovirus en paciente con leucemia linfoblástica aguda tipo T en remisión completa.

CLINICAL CASE: A 43-year-old woman in remission from T- cell acute lymphoblastic leukaemia was referred to our hospital with suspected leukaemic retinitis. The funduscopic examination of her left eye revealed multifocal yellow-white peripheral retinitis and retinal haemorrhage. The patient was treated for cytomegalovirus retinitis after an extended haematological investigation showed no abnormalities. Initial improvement was followed by papillitis in the left eye and motility restriction in the right eye. Magnetic resonance and lumbar puncture confirmed leukaemia relapse. Specific treatment was initiated with complete resolution. DISCUSSION: Ocular involvement may precede haematological leukaemia relapse. Physicians should be alerted when ocular symptoms appear in these cases.

Nevoid iris melanoma, case report. / Melanoma nevoide de iris, a propósito de un caso.

CASE REPORT: The case is presented of a patient with diagnosis of iris nevus in the left eye in youth with a poor follow-up, who referred a decreased visual acuity in that eye. A hyphaema and a 3×4×3mm nodule with irregular pigmentation was observed. Excision of the tumour and histological analysis confirmed the suspicion of iris melanoma in stage Ia. DISCUSSION: Despite the low grade malignancy of iris melanoma and the low frequency of transformation of iris nevus into melanoma, a follow-up is required for its early diagnosis and treatment.

Desprendimiento de retina exudativo e hipertensión pulmonar primaria / Exudative retinal detachment and primary pulmonary hypertension

Caso clínico: Mujer de 60 años que acudió de urgencia por pérdida súbita de visión en ojo izquierdo. El estudio fundoscópico mostró desprendimiento de retina exudativo. En la anamnesis refería disnea de un año de evolución y edemas periféricos. El estudio sistémico reveló la existencia de hipertensión pulmonar recibiendo tratamiento diurético (furosemida). El desprendimiento se resolvió a las 48h. Estudios posteriores determinaron una hipertensión pulmonar primaria. Discusión: El desprendimiento de retina exudativo puede ser el primer signo clínico de una enfermedad grave como la hipertensión pulmonar primaria. El oftalmólogo puede ser el primero en detectar esta enfermedad (AU)

Case report: A 60 year old woman who was seen in the emergency department due to sudden loss of vision in left eye. The fundoscopy study showed exudative retinal detachment. The patient referred to dyspnea and peripheral edema of one year duration during the anamnesis. The systematic study revealed the existence of pulmonary hypertension, and she was given diuretic treatment (furosemide). After 48h the detachment was resolved. Subsequent studies identified a primary pulmonary hypertension. Discussion: Exudative retinal detachment can be the first clinical sign of a serious disease like primary pulmonary hypertension. The ophthalmologist can be the first to detect this disease (AU)

Exudative retinal detachment and primary pulmonary hypertension.

CASE REPORT: A 60 year old woman who was seen in the emergency department due to sudden loss of vision in left eye. The fundoscopy study showed exudative retinal detachment. The patient referred to dyspnea and peripheral edema of one year duration during the anamnesis. The systematic study revealed the existence of pulmonary hypertension, and she was given diuretic treatment (furosemide). After 48 h the detachment was resolved. Subsequent studies identified a primary pulmonary hypertension. DISCUSSION: Exudative retinal detachment can be the first clinical sign of a serious disease like primary pulmonary hypertension. The ophthalmologist can be the first to detect this disease.

Cribado de retinopatía diabética y teleoftalmología / Diabetic retinopathy screening and teleophthalmology

Objetivo: Conocer la prevalencia de retinopatía diabética (RD) y evaluar nuestra experiencia en cribado RD en un estudio llevado a cabo entre el Servicio de Oftalmología del Hospital General Universitario de Alicante y el Departamento 19 de Atención Primaria de Alicante mediante la utilización de retinografías con cámara no midriática y telemedicina. Métodos: Estudio descriptivo transversal de 2.435 pacientes diabéticos desde el 1 de febrero de 2006 hasta el 1 de febrero de 2009, obteniéndose tres retinografías de 45° en ambos ojos de cada pacientes mediante cámara no midriática que son enviadas al Servicio de Oftalmología por la intranet del Hospital, donde son valoradas por dos oftalmólogos expertos en retina que emiten un informe individualizado de cada paciente. Resultados: La prevalencia de retinopatía diabética fue del 17,90%. De ellos un 80,73% presentaban RD no proliferativa leve y moderada, y un 12,16% RD no proliferativa severa y 2,29% RD proliferativa y 4,82% maculopatía diabética asociada a algún grado de retinopatía. En 41 pacientes (1,69%) las retinografías obtenidas no fueron valorables. Conclusiones: Destacamos las ventajas de la teleoftalmología en el cribado de pacientes diabéticos al permitir un diagnóstico y tratamiento precoces, y mejorar el circuito de comunicación entre atención primaria y especializada(AU)

Objective: To determine the prevalence of diabetic retinopathy (DR) and evaluate our experience in DR screening in a study carried out between the Ophthalmology Department of the University General Hospital of Alicante and Department 19 Primary Care of Alicante by using a non-retinal mydriatic camera and telemedicine. Material and methods: A descriptive, cross-sectional study was conducted on 2,435 diabetic patients from 1 February 2006 to 1 February 2009. Three 45° retinographies of both eyes of each patient were obtained and sent to the Department of Ophthalmology via the hospital intranet. These were then evaluated by 2 ophthalmologists, experts in the retina, with each issuing an individualized report for each patient. Results: The prevalence of DR was 17.90%, with 80.73% of them having mild-moderate proliferative DR, 12.16% severe non-proliferative DR, 2.29% proliferative DR, and 4.82% with diabetic maculopathy associated with any level of retinopathy. The retinographies were considered low quality in 41 patients (1.69%). Conclusions: We highlight the benefits of the tele-ophthalmology in screening diabetic patients to enable early diagnosis and treatment, and improving the circuit of communication between primary and specialist care(AU)

[Diabetic retinopathy screening and teleophthalmology]. / Cribado de retinopatía diabética y teleoftalmología.

OBJECTIVE: To determine the prevalence of diabetic retinopathy (DR) and evaluate our experience in DR screening in a study carried out between the Ophthalmology Department of the University General Hospital of Alicante and Department 19 Primary Care of Alicante by using a non-retinal mydriatic camera and telemedicine. MATERIAL AND METHODS: A descriptive, cross-sectional study was conducted on 2,435 diabetic patients from 1 February 2006 to 1 February 2009. Three 45° retinographies of both eyes of each patient were obtained and sent to the Department of Ophthalmology via the hospital intranet. These were then evaluated by 2 ophthalmologists, experts in the retina, with each issuing an individualized report for each patient. RESULTS: The prevalence of DR was 17.90%, with 80.73% of them having mild-moderate proliferative DR, 12.16% severe non-proliferative DR, 2.29% proliferative DR, and 4.82% with diabetic maculopathy associated with any level of retinopathy. The retinographies were considered low quality in 41 patients (1.69%). CONCLUSIONS: We highlight the benefits of the tele-ophthalmology in screening diabetic patients to enable early diagnosis and treatment, and improving the circuit of communication between primary and specialist care.

[Triamcinolone acetonide without solvents]. / Acetónido de triamcinolona sin conservantes.

OBJECTIVE: The purification of commercially prepared triamcinolone acetonide is important in order to avoid the potential toxic side-effects of the solvent benzyl alcohol. We present a new technique for preparation of pure triamcinolone acetonide by dissolving the powder in sterile distilled water with no additional solvents. As the triamcinolone powder is relatively insoluble in water, we describe the sterile method used for the preparation and control of this suspension. MATERIALS AND METHODS: The triamcinolone acetonide is prepared in our hospital pharmacy, under optimum sterile conditions, and then packaged in a primary vial, sealed and sterilized in an autoclave at 121°C. This vial contains an individual dose of 4mg/0.1ml. RESULTS: A final dose for an intravitreal administration of 3.77mg/0.1ml triamcinolone acetonide was obtained using high pressure liquid chromatography (HPLC). The chemical, physical and microbiological stability allows the solution to be kept at a temperature of 2-8°C for 6 months. CONCLUSIONS: A rapid method is presented for preparing triamcinolone acetonide in pure state without preservatives in a concentration near the standard dose and under optimum sterile conditions.

Acetónido de triamcinolona sin conservantes / Triamcinolone acetonide without solvents

Objetivo: La purificación del preparado comercial de triamcinolona acetónido disponible es importante para evitar el efecto potencialmente tóxico del disolvente alcohol bencílico. Presentamos una nueva técnica de preparación de triamcinolona en polvo, a partir de su forma pura, sin disolventes y diluida con agua destilada estéril. Dada su escasa solubilidad en aguase describe cómo preparar y controlar dicha suspensión. Material y método: El acetónido de triamcinolona es preparado por el Servicio de Farmacia del Hospital, en condiciones de máxima esterilidad, bajo campana de flujo laminar. La suspensión de triamcinolona es envasada en un vial primario, capsulado y posteriormente esterilizado en autoclave a 121 ◦C. Del vial primario se obtienen dosis individualizadas de 4 mg/0,1 ml. Resultados: Se obtiene la dosis real administrada (3,77 mg/0,1 ml) mediante cuantificación de triamcinolona por cromatografía líquida de alta resolución (HPLC). La estabilidad física, química y microbiológica conservando el vial entre 2-8◦ se mantiene a los 6 meses. Conclusión: Se presenta un método de preparación de triamcinolona en estado puro, obteniendo una concentración muy próxima a la dosis óptima, evitando el uso de disolventes y con máxima garantía de esterilidad(AU)

Objective: The purification of commercially prepared triamcinolone acetonide is important in order to avoid the potential toxic side-effects of the solvent benzyl alcohol. We present a new technique for preparation of pure triamcinolone acetonide by dissolving the powder in sterile distilled water with no additional solvents. As the triamcinolone powder is relatively insoluble in water, we describe the sterile method used for the preparation and control of this suspension. Materials and methods: The triamcinolone acetonide is prepared in our hospital pharmacy, under optimum sterile conditions, and then packaged in a primary vial, sealed and sterilized in an autoclave at 121 ºC. This vial contains an individual dose of 4 mg/0.1 ml. Results: A final dose for an intravitreal administration of 3.77 mg/0.1 ml triamcinolone acetonide was obtained using high pressure liquid chromatography (HPLC). The chemical,physical and microbiological stability allows the solution to be kept at a temperature of 2-8 ◦C for 6 months. Conclusions: A rapid method is presented for preparing triamcinolone acetonide in pure state without preservatives in a concentration near the standard dose and under optimum sterile conditions(AU)

Estudio del endometrio mediante ultrasonografía e histología en pacientes posmenopáusicasasintomáticas con hipertensión arterial / Sonographic and histological assessment in asymptomatic postmenopausal women with hypertension

Objetivo: Recientes estudios han correlacionado el hallazgo ecográfico de aumento de espesor endometrial en mujeres posmenopáusicas asintomáticas hipertensas con el consumo de fármacos antihipertensivos. En este estudio prospectivo intentamos correlacionar estas imágenes ecográficas con un sustrato histológico en mujeres menopáusicas hipertensas en tratamiento, comparándolas con las de mujeres menopáusicas normotensas. Sujetos y método: 388 mujeres menopáusicas asintomáticas fueron seleccionadas para este estudio, 187 (48,2 por ciento) eran normotensas, 19 (9 por ciento) eran hipertensas sin tratamiento y 182 (46,9 por ciento) eran hipertensas con tratamiento (si consumían diuréticos no eran incluidas). A todas las pacientes se les realizaba inicialmente una ecografía transvaginal para valorar el grosor endometrial y la ecogenicidad, y posteriormente se realizaba una toma endometrial. Si la ecografía o la toma endometrial resultaban anormales se procedía a la realización de una histeroscopia con biopsia dirigida. Resultados: El grosor endometrial en las mujeres hipertensas con tratamiento farmacológico (4,2 mm ñ 3,2) era significativamente mayor que en las mujeres normotensas (3,0 mm ñ 2,3; p < 0,0001).Los hallazgos histológicos indicaban mayor incidencia de pólipos en el grupo de mujeres hipertensas con tratamiento (17,6 por ciento) que en las mujeres normotensas (9,6 por ciento; p < 0,001) y mujeres hipertensas sin tratamiento (10,5 por ciento; p < 0,001). Conclusiones: Las mujeres menopáusicas asintomáticas con tratamiento antihipertensivo presentan endometrios engrosados con más frecuencia. El sustrato histológico de estos hallazgos objetiva una mayor incidencia de pólipos (AU)

[Primary antiphospholipid syndrome diagnosed in hemodialysis]. / Síndrome antifosfolípido primario diagnosticado en hemodiálisis.

We present the next case: male, 30 years old, primary APLA syndrome diagnosed after 6 months of treatment with recurrent haemodialysis. The patient, who had a history of vascular thrombosis, presented with thrombotic problems in his arteriovenous fistula made as vascular access for hemodialysis. The discovery of celic trunk and superior mesenteric artery occlusions led us to the clinical diagnosis, which was confirmed by presence of a pathological type of lupus anticoagulant and anticardiolipin antibodies in plasma. We started treatment with oral anticoagulation, warfarin therapy. Since then there have been no more thrombotic events, though the period under observation is still short.

Síndrome antifosfolípido primario diagnosticado en hemodiálisis / Primary antiphospolipic antibody syndrome diagnosed in haemodialysis

Presentamos el caso de un paciente de 30 años diagnosticado de síndrome antifosfolípido primario a los 6 meses del inicio de tratamiento con hemodiálisis periódica. El paciente, que tenía una historia clínica de trombosis vasculares previas, presentaba problemas trombóticos frecuentes en la fístula arteriovenosa realizada con acceso vascular para hemodiálisis. El hallazgo de oclusión de la arteria mesentérica superior y del tronco celíaco nos condujo al diagnóstico clínico, que se confirmó con la presencia en plasma de un tipo patológico de anticoagulante lúpico y anticuerpos anticardiolipina. Se inició tratamiento con anticoagulación oral mediante dicumarínicos. Desde entonces no han existido más eventos trombóticos, si bien el período de observación es corto todavía (AU)